Canonical Allele Identifier: CA507690792

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41423040-C-A
• MyVariant Identifiers: chr19:g.41928945C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423040C>A , CM000681.2:g.41423040C>A	GRCh38
NC_000019.9:g.41928945C>A , CM000681.1:g.41928945C>A	GRCh37
NC_000019.8:g.46620785C>A	NCBI36
NG_013004.1:g.30252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1038C>A MANE Select	ENSP00000269980.2:p.Arg346=
ENST00000269980.6:c.1038C>A	ENSP00000269980.2:p.Arg346=
ENST00000457836.6:c.1047C>A	ENSP00000416000.2:p.Arg349=
ENST00000540732.3:c.1140C>A	ENSP00000443246.1:p.Arg380=
ENST00000542943.5:c.951C>A	ENSP00000440345.1:p.Arg317=
ENST00000595085.5:c.922+343C>A	ENSP00000471150.2:n.922+343C>A
NM_000709.3:c.1038C>A	NP_000700.1:p.Arg346=
NM_001164783.1:c.1035C>A	NP_001158255.1:p.Arg345=
NM_000709.4:c.1038C>A MANE Select	NP_000700.1:p.Arg346=
NM_001164783.2:c.1035C>A	NP_001158255.1:p.Arg345=